Mutagenetix > Incidental Mutations

Incidental Mutation 'R5397:Slc2a5'

429736

Institutional Source

Beutler Lab

Gene Symbol

Slc2a5

Ensembl Gene

ENSMUSG00000028976

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 5

Synonyms

GLUT5

MMRRC Submission

042968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150119283-150144169 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 150139823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030826]

AlphaFold

Q9WV38

Predicted Effect

probably null
Transcript: ENSMUST00000030826

SMART Domains

Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	397	1e-19	PFAM
Pfam:Sugar_tr	19	474	2.1e-138	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151504

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803	T518A	probably benign	Het
Acvr1b	T	A	15: 101,198,964	V254D	probably damaging	Het
Adar	T	C	3: 89,735,319	I169T	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Arap1	A	T	7: 101,384,912	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,111,493	M1037K	probably damaging	Het
Bsg	T	A	10: 79,708,795	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,541	T276A	probably damaging	Het
Capn2	A	G	1: 182,470,706	C665R	probably damaging	Het
Cast	A	G	13: 74,720,937	S248P	possibly damaging	Het
Cd68	C	T	11: 69,665,658	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,392,078	W131R	probably damaging	Het
Dhx58	A	G	11: 100,703,920	V50A	probably damaging	Het
Fam124a	A	G	14: 62,606,389	S449G	probably benign	Het
Flnc	G	A	6: 29,441,161	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpr149	A	G	3: 62,530,805	S644P	probably damaging	Het
Gucy1b1	G	A	3: 82,044,151	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,405,856	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Lig4	G	T	8: 9,972,644	R379S	probably benign	Het
Map7	G	A	10: 20,273,321	R514Q	unknown	Het
Mertk	T	A	2: 128,771,464	F467I	possibly damaging	Het
Mettl4	A	T	17: 94,727,277	Y463*	probably null	Het
Nme8	T	C	13: 19,694,379	D70G	probably damaging	Het
Npat	A	G	9: 53,570,474	N1161D	probably damaging	Het
Olfr1283	T	A	2: 111,368,940	C103S	probably benign	Het
Olfr616	T	A	7: 103,564,506	I258F	probably damaging	Het
Olfr813	T	C	10: 129,856,710	F64S	probably damaging	Het
Paxip1	A	T	5: 27,772,004		probably benign	Het
Peg10	C	CTCG	6: 4,756,453		probably benign	Het
Plxnc1	T	C	10: 94,843,752	T923A	probably benign	Het
Pms1	T	A	1: 53,192,120	K857*	probably null	Het
Ppp1r9b	A	G	11: 95,002,110	E260G	probably damaging	Het
Prpf3	A	T	3: 95,853,579	S4T	probably benign	Het
Rdh14	T	A	12: 10,394,869	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
S100a1	A	T	3: 90,512,135	M1K	probably null	Het
Slc5a5	T	C	8: 70,891,179	T160A	probably damaging	Het
Srcap	T	G	7: 127,553,296		probably null	Het
Tcrg-V5	A	C	13: 19,192,558	E42D	possibly damaging	Het
Tgm6	T	A	2: 130,141,908	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,661,774	A201V	probably benign	Het
Ttc13	T	C	8: 124,675,263	T662A	possibly damaging	Het
Ttn	T	C	2: 76,725,255	T30469A	probably damaging	Het
Ube3a	T	A	7: 59,286,912	S645R	probably benign	Het
Vgll2	A	G	10: 52,025,166	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,979,075	C76*	probably null	Het
Vmn2r101	A	G	17: 19,588,842	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,332,517		probably benign	Het
Zcchc7	C	A	4: 44,926,048	A28E	probably damaging	Het

Other mutations in Slc2a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Slc2a5	APN	4	150125656	missense	probably damaging	1.00
IGL01071:Slc2a5	APN	4	150120733	utr 5 prime	probably benign
IGL01977:Slc2a5	APN	4	150142218	missense	probably damaging	0.97
IGL03271:Slc2a5	APN	4	150135583	missense	probably damaging	1.00
BB006:Slc2a5	UTSW	4	150139485	missense	probably benign	0.39
BB016:Slc2a5	UTSW	4	150139485	missense	probably benign	0.39
R0760:Slc2a5	UTSW	4	150139667	missense	probably benign
R0906:Slc2a5	UTSW	4	150142830	missense	probably benign	0.21
R1099:Slc2a5	UTSW	4	150142179	missense	probably benign	0.01
R1809:Slc2a5	UTSW	4	150143057	missense	probably damaging	1.00
R2099:Slc2a5	UTSW	4	150143177	nonsense	probably null
R2152:Slc2a5	UTSW	4	150125638	missense	probably damaging	1.00
R2253:Slc2a5	UTSW	4	150139990	missense	possibly damaging	0.78
R2696:Slc2a5	UTSW	4	150120746	missense	probably benign
R4835:Slc2a5	UTSW	4	150140005	missense	probably benign	0.06
R4926:Slc2a5	UTSW	4	150120742	nonsense	probably null
R5123:Slc2a5	UTSW	4	150139805	nonsense	probably null
R6209:Slc2a5	UTSW	4	150143100	missense	probably benign	0.00
R6342:Slc2a5	UTSW	4	150139526	missense	possibly damaging	0.93
R6547:Slc2a5	UTSW	4	150135619	missense	possibly damaging	0.94
R7340:Slc2a5	UTSW	4	150139982	missense	probably benign	0.44
R7507:Slc2a5	UTSW	4	150125650	missense	probably damaging	1.00
R7537:Slc2a5	UTSW	4	150129069	missense	possibly damaging	0.89
R7572:Slc2a5	UTSW	4	150142185	missense	probably benign	0.33
R7751:Slc2a5	UTSW	4	150143134	missense	probably damaging	1.00
R7929:Slc2a5	UTSW	4	150139485	missense	probably benign	0.39
R8058:Slc2a5	UTSW	4	150143133	missense	probably damaging	1.00
R8318:Slc2a5	UTSW	4	150139658	missense	possibly damaging	0.90
R8477:Slc2a5	UTSW	4	150125662	missense	probably benign	0.09
R8498:Slc2a5	UTSW	4	150126133	missense	probably benign	0.01
R8975:Slc2a5	UTSW	4	150139813	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACGTGCACCTAGAGATGG -3'
(R):5'- ACTCTTGGTGGCTTAAGGGACC -3'

Sequencing Primer
(F):5'- TGCACCTAGAGATGGAGGAGATC -3'
(R):5'- TGGTCATGAACACATTGACGGC -3'

Posted On

2016-09-06